ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827626848
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433216
ClinVar RCV Id:
RCV000499048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Leu241Arg
CA7926473
NM_001351800.1:c.722T>G